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Cardiomyopathies - including childhood onset

Gene: PPCS

Green List (high evidence)

PPCS (phosphopantothenoylcysteine synthetase)
EnsemblGeneIds (GRCh38): ENSG00000127125
EnsemblGeneIds (GRCh37): ENSG00000127125
OMIM: 609853, Gene2Phenotype
PPCS is in 1 panel

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 2C, 618189
OMIM
609853
Clinvar variants
Variants in PPCS
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PPCS were changed from to Cardiomyopathy, dilated, 2C, 618189

2 Dec 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: PPCS was changed from to BIALLELIC, autosomal or pseudoautosomal

2 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: PPCS was added gene: PPCS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PPCS was set to